Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Woods black norbury syndrome
Introduction
Synonyms and keywords: Immunoneurologic disorder,X-linked
Overview
Overview
Woods black norbury syndrome is an X-linked dominant disease with IgG2 deficiency characterised by poor bladder function, low birth weight in males, severe neonatal hypotonia in males, complex hereditary spastic paraplegia in females, static reduced night vision and slowly progressive proximal muscle weakness.[1]
Diagnosis
Diagnosis
Symptoms
Woods black norbury syndrome is characterised by static reduced night vision.[3]
Physical findings
Physical findings
Genitourinary
- poor bladder function.
Growth
- low birth weight in males.
Neurological
- severe neonatal hypotonia in males,
- complex hereditary spastic paraplegia in females,
- brisk reflexes
Muscular
- slowly progressive proximal muscle weakness.
Laboratory findings
Woods black norbury syndrome is characterised by IgG2 deficiency.[4]
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]